Comparison of Clinical Presentations and Outcomes Between Patients With TGFBR2 and FBN1 Mutations in Marfan Syndrome and Related Disorders

UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity-application to four genes:FBN1,FBN2,TGFBR1, andTGFBR2

(2009) Mélissa Yana Frédéric et al.   HUMAN MUTATION

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

Medical Management of Marfan Syndrome

(2008) Martin G. Keane et al.   CIRCULATION

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24–32 mutation

(2008) L Faivre et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Identification of 23TGFBR2and 6TGFBR1gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders

(2008) Chantal Stheneur et al.   HUMAN MUTATION

A new locus-specific database (LSDB) for mutations in theTGFBR2gene: UMD-TGFBR2

(2007) Melissa Yana Frederic et al.   HUMAN MUTATION